Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss
Freitas, Érika L, Oiticica, Jeanne, Silva, Amanda G, Bittar, Roseli S.M, Rosenberg, Carla, Mingroni-Netto, Regina C
Published in European journal of medical genetics (01.03.2014)
Published in European journal of medical genetics (01.03.2014)
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Journal Article
Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
Ramos, Luiza L. P., Monteiro, Fabiola P., Sampaio, Leticia P. B., Costa, Larissa A., Ribeiro, Mara D. O., Freitas, Erika L., Kitajima, Joao P., Kok, Fernando
Published in Clinical case reports (01.08.2019)
Published in Clinical case reports (01.08.2019)
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Journal Article
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
Freitas, Érika L., Gribble, Susan M., Simioni, Milena, Vieira, Társis P., Silva‐Grecco, Roseane L., Balarin, Marly A. S., Prigmore, Elena, Krepischi‐Santos, Ana C., Rosenberg, Carla, Szuhai, Karoly, van Haeringen, Arie, Carter, Nigel P., Gil‐da‐Silva‐Lopes, Vera Lúcia
Published in American journal of medical genetics. Part A (01.11.2011)
Published in American journal of medical genetics. Part A (01.11.2011)
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Journal Article
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family
Uehara, Daniela T, Freitas, Érika L, Alves, Leandro U, Mazzeu, Juliana F, Auricchio, Maria Tbm, Tabith, Jr, Alfredo, Monteiro, Mário Lr, Rosenberg, Carla, Mingroni-Netto, Regina C
Published in Human genome variation (2015)
Published in Human genome variation (2015)
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Journal Article
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
Izzo, Giselle, Freitas, Érika L, Krepischi, Ana Cristina V, Pearson, Peter L, Vasques, Luciana R, Passos-Bueno, Maria Rita S, Bertola, Débora R, Rosenberg, Carla
Published in European journal of medical genetics (01.04.2013)
Published in European journal of medical genetics (01.04.2013)
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Journal Article
Partial 1q Duplications and Associated Phenotype
Morris, Marcos L.M., Baroneza, José E., Teixeira, Patricia, Medina, Cristina T.N., Cordoba, Mara S., Versiani, Beatriz R., Roese, Liege L., Freitas, Erika L., Fonseca, Ana C.S., dos Santos, Maria C.G., Pic-Taylor, Aline, Rosenberg, Carla, Oliveira, Silviene F., Ferrari, Iris, Mazzeu, Juliana F.
Published in Molecular syndromology (01.02.2016)
Published in Molecular syndromology (01.02.2016)
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Journal Article
A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
Freitas, Érika L, Gribble, Susan M, Simioni, Milena, Vieira, Társis P, Prigmore, Elena, Krepischi, Ana C, Rosenberg, Carla, Pearson, Peter L, Melo, Débora G, Gil-da-Silva-Lopes, Vera Lúcia
Published in European journal of medical genetics (01.11.2012)
Published in European journal of medical genetics (01.11.2012)
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Journal Article
Molecular characterization of adenovirus detected from fecal samples obtained from children in the Central West region of Brazil
de Freitas, Erika Regina L, Borges, Ana Maria T, Fiaccadori, Fabíola S, e Souza, Menira B. L. D, das Dôres P. Cardoso, Divina
Published in Archives of virology (01.10.2010)
Published in Archives of virology (01.10.2010)
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Journal Article
Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum
dos Santos, Pollyanna Almeida Costa, de Oliveira, Silviene Fabiana, Freitas, Erika L., Safatle, Heloisa Pires Neto, Rosenberg, Carla, Ferrari, Iris, Mazzeu, Juliana Forte
Published in American journal of medical genetics. Part A (01.02.2014)
Published in American journal of medical genetics. Part A (01.02.2014)
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Journal Article
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family
Dantas, Vitor G L, Freitas, Erika L, Della-Rosa, Valter A, Lezirovitz, Karina, de Moraes, Ana Maria S M, Ramos, Silvia B, Oiticica, Jeanne, Alves, Leandro U, Pearson, Peter L, Rosenberg, Carla, Mingroni-Netto, Regina C
Published in International journal of audiology (02.09.2015)
Published in International journal of audiology (02.09.2015)
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Journal Article
Making Gratitude a Habit: Languages of Appreciation at a School of Pharmacy
O'bryant, Cindy L., Freitas, Erika L., Lammers, Debra
Published in American journal of pharmaceutical education (01.09.2024)
Published in American journal of pharmaceutical education (01.09.2024)
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Journal Article
Making Workplace Culture Intentional: The CU Pharmacy Way
Freitas, Erika L., O'bryant, Cindy L., Gallegos, Debbie, Moore, Gina, Bethea, Kayla, Fish, Doug, Anderson, Heather, Altiere, Ralph J.
Published in American journal of pharmaceutical education (01.09.2024)
Published in American journal of pharmaceutical education (01.09.2024)
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Journal Article
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
Freitas, Érika L., Gribble, Susan M., Simioni, Milena, Vieira, Társis P., Silva-Grecco, Roseane L., Balarin, Marly A. S., Prigmore, Elena, Krepischi-Santos, Ana C., Rosenberg, Carla, Szuhai, Karoly, van Haeringen, Arie, Carter, Nigel P., Gil-da-Silva-Lopes, Vera Lúcia
Published in American Journal of Medical Genetics Part A (01.11.2011)
Published in American Journal of Medical Genetics Part A (01.11.2011)
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Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
Ramos, Luiza L P, Monteiro, Fabiola P, Sampaio, Leticia P B, Costa, Larissa A, Ribeiro, Mara D O, Freitas, Erika L, Kitajima, Joao P, Kok, Fernando
Published in Clinical case reports (01.08.2019)
Published in Clinical case reports (01.08.2019)
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